Varaico: Literature-Extracted Genetic Variants

Gene:MOCOS
Variant:p.R680Splc
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MOCOS

NM_017947.4:p.R680Splc

Associated Papers

Thiopurine-induced toxicity is associated with dysfunction variant of the human molybdenum cofactor sulfurase gene (xanthinuria type II).

Stiburkova B et al.

Toxicology and Applied Pharmacology, 2018

Identification and characterization of the first mutation (Arg776Cys) in the C-terminal domain of the Human Molybdenum Cofactor Sulfurase (HMCS) associated with type II classical xanthinuria.

Peretz H et al.

Molecular Genetics and Metabolism, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."